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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305895013 | 2q31.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305896014 | 2q31.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305897017 | Monosomy 2q31.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401319019 | 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401320013 | 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305895013 | 2q31.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305895013 | 2q31.1 microdeletion syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305896014 | 2q31.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305896014 | 2q31.1 microdeletion syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305897017 | Monosomy 2q31.1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3305897017 | Monosomy 2q31.1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305898010 | A well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305899019 | A well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. It has been reported in 20 patients. Dysmorphic features include microcephaly, downslanting palpebral fissures, flat and long philtrum, micrognathia and low-set and dysplastic ears. The spectrum of limb defects ranges from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. The lower limbs tend to be more often and more severely affected than the upper limbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401319019 | 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401320013 | 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3390411001000114 | Mikrodeletionssyndrom 2q31.1 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 946521000172110 | del(2)(q31.1) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 996271000172118 | syndrome de microdélétion 2q31.1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 946521000172110 | del(2)(q31.1) | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 996271000172118 | syndrome de microdélétion 2q31.1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3390411001000114 | Mikrodeletionssyndrom 2q31.1 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Is a | Anomaly of chromosome pair 2 | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Is a | Deletion of part of autosome | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Finding site | Chromosome pair 2 (cell structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Associated morphology | Deletion of long arm | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Is a | Deletion of part of long arm of chromosome 2 (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Finding site | Long arm of chromosome (cell structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Finding site | Chromosome pair 2 (cell structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Associated morphology | Partial monosomy (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)